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ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview

Amore, Greta; Calì, Elisa; Spanò, Maria; Ceravolo, Giorgia; Mangano, Giuseppe Donato; Scorrano, Giovanna; Efthymiou, Stephanie; ... Di Rosa, Gabriella; + view all (2023) ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview. Brain & Development 10.1016/j.braindev.2023.07.004. (In press).

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Abstract

Background: ATP6V1B2 (ATPase, H+ transporting, lysosomal VI subunit B, isoform 2) encodes for a subunit of a ubiquitous transmembrane lysosomal proton pump, implicated in the acidification of intracellular organelles and in several additional cellular functions. Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of ATP6V1B2-related disorders remain limited due to the few numbers of reported cases. // Case study: We hereby report the case of an 18-year-old male Sicilian patient affected by a global developmental delay, skeletal abnormalities, and epileptic encephalopathy featuring Lennox-Gastaut syndrome (LGS), in which exome sequencing led to the identification of a novel de novo variant in ATP6V1B2 (NM_001693.4: c.973G > C, p.Gly325Arg). // Conclusions: Our report provides new insights on the inclusion of developmental epileptic encephalopathies (DEEs) within the continuum group of ATP6V1B2-related disorders, expanding the phenotypic and molecular spectrum associated with these conditions.

Type: Article
Title: ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview
Location: Netherlands
DOI: 10.1016/j.braindev.2023.07.004
Publisher version: https://doi.org/10.1016/j.braindev.2023.07.004
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: ATP6V1B2; ATP6V1B2-related disorders; Deafness-onycodystrophy-osteodystrophy-mental retardation-seizures; Developmental epileptic encephalopathy; Dominant deafness-onycodystrophy; Lennox-Gastaut syndrome; Zimmermann-Laband syndrome 2
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10178135
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